R18Q (p.Arg18Gln) variant of PRKG1 (cGMP-dependent protein kinase 1)
R18Q (p.Arg18Gln) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R18Q (p.Arg18Gln) variant details
- p.Arg18Gln
- rs1440365856
- gnomAD 10-51074604-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.22
- MetaLR 0.18
- MetaSVM -0.88
- CADD 24.10
- PolyPhen-2 0.02
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available